attomol^® Lactose Intolerance -13910C>T Realtime TM 2

The consumption of milk or other foods containing lactose leads to intolerances in some adults . These are often categorised as primary (congenital) lactose intolerance (LIT), which manifests in adulthood. The most common symptoms include lactose maldigestion, meteorism (drum belly), flatulence and diarrhoea [Misselwitz et al: Update on lactose malabsorption and intolerance: pathogenesis, diagnosis and clinical management. Gut 2019; 68:2080-2091]. Lactose tolerance can be triggered by an activating mutation in the MCM6 gene (minichromosome maintenance gene) on chromosome 2, close to the lactase gene (lactase phlorizin hydrolase gene, LPH gene). Activating mutation means that carriers of this mutation have a biological advantage over non-mutation carriers. In the case of the mutation to be determined with this kit, a base exchange from C to T takes place at position -13910 in front of the lactase gene, which leads to lifelong lactose tolerance in carriers of the homozygous mutation (-13910 T/T). In heterozygous carriers, it is assumed that the inactivity of one allele can be at least partially compensated [Obermayer-Pietsch B.: Bone density and lactose intolerance-Overview of current developments. Journal
of Mineral Metabolism & Musculoskeletal Diseases, 2004, 11(3), 20-23, Sibley E.: Genetic variation and lactose intolerance: detection methods and clinical implications. Am. J. Pharmacogenomics, 2004, 4(4), 239-245].
The presence of the wild type results in reduced lactase activity, which decreases even further with increasing age. This means that lactose can be broken down less and less into glucose and galactose. As unsplit lactose cannot be absorbed by the body, the symptoms mentioned above occur [Srinivasan R. et al: When to suspect lactose intolerance. Symptomatic, ethnic, and laboratory clues. Postgraduate Medicine, 1998, 104(3), 109-111, 115-116, 122-123]. The loss of lactase activity usually begins after the weaning phase and ends in a state of lactose intolerance in adulthood. In the Caucasian population, the parameter LIT -13910C>T correlates very well with lactose tolerance. In other populations, such as Africans, the determination is not very useful, as other single nucleotide polymorphisms (SNP) are more common here and also lead to lactose tolerance [Liebert et al: World wide distributions of lactase persistence alleles and the complex - effects of recombination and selection. Hum Genet 2017, 136:1445-1453].

• PCR-H₂O
• Premix LIT -13910C>T TM 2
• Hot Start Taq DNA Polymerase (2 U/µl)
• instructions for use

You can find more informations about the TaqMan^TM-Technology here.